If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
7
|
5
|
282
|
295
|
36
|
617
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
3
|
2
|
272
|
292
|
36
|
605
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
3
|
6
|
9
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
Samuels research lab, Centre de Recherche du CHU Ste-Justine
|
4
|
0 |
0 |
0 |
0 |
4
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
3
|
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
3
|
0 |
0 |
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
1
|
1
|
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
2
|
Molecular Genetics Laboratory - Diagnostics Genetics, LabPLUS - Auckland City Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Bioinformatics Unit, Institut Pasteur de Montevideo
|
1
|
0 |
0 |
0 |
0 |
1
|
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